TH (tyrosine hydroxylase)

Gene

• Entrez ID: 7054
• Gene name: Tyrosine hydroxylase
• Gene symbol: TH
• Synonyms (NCBI Gene): DYT14, DYT5b, TYH
• Chromosome: 11
• Chromosome location: 11p15.5
• Summary: The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been ass

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11564716	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity, benign	Synonymous variant, coding sequence variant
rs28934581	T>G	Pathogenic	Coding sequence variant, missense variant
rs45471299	G>A	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs80338892	C>T	Pathogenic	Missense variant, coding sequence variant
rs121917762	G>A,T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, missense variant
rs121917763	A>G	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs121917765	C>A	Pathogenic	Coding sequence variant, missense variant
rs151082354	C>G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs184106392	C>G,T	Not-provided, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs536382000	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587776767	A>T	Pathogenic	Intron variant
rs771351747	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs771610752	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs775410637	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs777379609	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs786204540	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs797045111	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057516491	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516712	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516736	C>T	Likely-pathogenic	Splice donor variant
rs1057516819	C>T	Likely-pathogenic	Splice donor variant
rs1057516874	CAATGAACCGCGGGGACTGTGGGGAC>-	Likely-pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs1057517003	A>G	Likely-pathogenic	Splice donor variant
rs1057517162	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517423	G>A	Pathogenic	Stop gained, coding sequence variant
rs1057519220	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1057520384	G>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064795631	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1266265578	C>T	Likely-pathogenic	Splice donor variant
rs1288483479	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554922434	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554922441	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1554922593	CAGCA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554923004	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554923121	T>C	Likely-pathogenic	Splice acceptor variant
rs1554923218	G>C	Pathogenic	Coding sequence variant, stop gained
rs1554923305	AGGGGCCCCTCACTGC>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant
rs1554923317	A>T	Likely-pathogenic	Splice donor variant
rs1554923513	C>G,T	Likely-pathogenic	Splice donor variant
rs1554923802	C>T	Likely-pathogenic	Splice donor variant
rs1554923810	->CGGGACAGCGCCGAGGGCT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1554923852	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1564918287	CG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1590166832	GAACTGCGCGA>-	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1590168246	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1590168368	T>C	Likely-pathogenic	Splice acceptor variant
rs1590169710	G>A	Pathogenic	Coding sequence variant, stop gained
rs1590169802	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1590170978	->CTC	Likely-pathogenic	Coding sequence variant, inframe insertion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT437777	hsa-miR-1-3p	Luciferase reporter assay	25512392
MIRT1422303	hsa-miR-1226	CLIP-seq
MIRT1422304	hsa-miR-148a	CLIP-seq
MIRT1422305	hsa-miR-148b	CLIP-seq
MIRT1422306	hsa-miR-152	CLIP-seq
MIRT1422307	hsa-miR-2861	CLIP-seq
MIRT1422308	hsa-miR-3670	CLIP-seq
MIRT1422309	hsa-miR-3918	CLIP-seq
MIRT1422310	hsa-miR-4497	CLIP-seq
MIRT1422311	hsa-miR-4512	CLIP-seq
MIRT1422312	hsa-miR-4685-5p	CLIP-seq
MIRT1422313	hsa-miR-4733-3p	CLIP-seq
MIRT2395779	hsa-miR-140-3p	CLIP-seq
MIRT2395780	hsa-miR-197	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AR	Activation	16356647
ATF1	Unknown	11108136
CREB1	Unknown	11108136
CREM	Unknown	11108136
EGR1	Unknown	20124442
HOXA4	Unknown	12670698
HOXA5	Unknown	12670698
PITX3	Activation	22223473
REST	Activation	16764822
REST	Repression	16764822
SFPQ	Unknown	16731528
SP1	Unknown	20124442
SRY	Unknown	20124442;22568433
TFAP2A	Unknown	11146001

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IDA	17520326
GO:0001963	Process	Synaptic transmission, dopaminergic	IBA
GO:0001963	Process	Synaptic transmission, dopaminergic	IEA
GO:0001963	Process	Synaptic transmission, dopaminergic	ISS
GO:0003007	Process	Heart morphogenesis	NAS	12113410
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004511	Function	Tyrosine 3-monooxygenase activity	IBA
GO:0004511	Function	Tyrosine 3-monooxygenase activity	IDA	1680128, 2896667, 11943812, 12631248, 16338639, 19703902
GO:0004511	Function	Tyrosine 3-monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	11943812, 19703902, 32296183
GO:0005634	Component	Nucleus	IDA	21392500
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	10907721, 21392500
GO:0005737	Component	Cytoplasm	IEA
GO:0005790	Component	Smooth endoplasmic reticulum	IDA	12457228
GO:0005829	Component	Cytosol	TAS
GO:0006585	Process	Dopamine biosynthetic process from tyrosine	IBA
GO:0006585	Process	Dopamine biosynthetic process from tyrosine	IEA
GO:0006585	Process	Dopamine biosynthetic process from tyrosine	NAS	10907721
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	ISS
GO:0007612	Process	Learning	IEA
GO:0007612	Process	Learning	ISS
GO:0007613	Process	Memory	IEA
GO:0007613	Process	Memory	ISS
GO:0007617	Process	Mating behavior	IBA
GO:0007617	Process	Mating behavior	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0007626	Process	Locomotory behavior	ISS
GO:0008016	Process	Regulation of heart contraction	IEA
GO:0008016	Process	Regulation of heart contraction	ISS
GO:0008021	Component	Synaptic vesicle	IEA
GO:0009072	Process	Aromatic amino acid metabolic process	IEA
GO:0009653	Process	Anatomical structure morphogenesis	TAS	7715703
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009887	Process	Animal organ morphogenesis	ISS
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	12457228
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016714	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced pteridine as one donor, and incorporation of one atom of oxygen	IEA
GO:0019899	Function	Enzyme binding	IPI	19703902
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	12457228
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0033162	Component	Melanosome membrane	IDA	12631248
GO:0042416	Process	Dopamine biosynthetic process	IDA	12457228, 19703902
GO:0042416	Process	Dopamine biosynthetic process	IEA
GO:0042418	Process	Epinephrine biosynthetic process	IBA
GO:0042418	Process	Epinephrine biosynthetic process	IDA	12457228
GO:0042421	Process	Norepinephrine biosynthetic process	IBA
GO:0042421	Process	Norepinephrine biosynthetic process	IDA	12457228
GO:0042423	Process	Catecholamine biosynthetic process	IEA
GO:0042427	Process	Serotonin biosynthetic process	IBA
GO:0042462	Process	Eye photoreceptor cell development	IEA
GO:0042462	Process	Eye photoreceptor cell development	ISS
GO:0042755	Process	Eating behavior	IEA
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IDA	17135716
GO:0043005	Component	Neuron projection	IEA
GO:0043204	Component	Perikaryon	IBA
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0043473	Process	Pigmentation	TAS	12631248
GO:0045202	Component	Synapse	IEA
GO:0045471	Process	Response to ethanol	IDA	18343820
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0048596	Process	Embryonic camera-type eye morphogenesis	IEA
GO:0048596	Process	Embryonic camera-type eye morphogenesis	ISS
GO:0050890	Process	Cognition	IBA
GO:1990384	Process	Hyaloid vascular plexus regression	IEA
GO:1990384	Process	Hyaloid vascular plexus regression	ISS

Other IDs

• MIM: 191290
• HGNC: 11782
• e!Ensembl: ENSG00000180176

Protein

• UniProt ID: P07101
• Protein name: Tyrosine 3-monooxygenase (EC 1.14.16.2) (Tyrosine 3-hydroxylase) (TH)
• Protein function: Catalyzes the conversion of L-tyrosine to L-dihydroxyphenylalanine (L-Dopa), the rate-limiting step in the biosynthesis of catecholamines, dopamine, noradrenaline, and adrenaline. Uses tetrahydrobiopterin and molecular oxygen to convert tyrosine
• PDB: 2XSN, 4J6S, 6ZN2, 6ZVP, 6ZZU, 7A2G, 7PIM
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12549	TOH_N	2 → 26	Tyrosine hydroxylase N terminal	Family
  PF12549	TOH_N	37 → 61	Tyrosine hydroxylase N terminal	Family
  PF12549	TOH_N	57 → 80	Tyrosine hydroxylase N terminal	Family
  PF00351	Biopterin_H	195 → 525	Biopterin-dependent aromatic amino acid hydroxylase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Mainly expressed in the brain and adrenal glands.
• Sequence:

  MPTPDATTPQAKGFRRAVSELDAKQAEAIMVRGQGAPGPSLTGSPWPGTAAPAASYTPTP
  RSPRFIGRRQSLIEDARKEREAAVAAAAAAVPSEPGDPLEAVAFEEKEGKAVLNLLFSPR
  ATKPSALSRAVKVFETFEAKIHHLETRPAQRPRAGGPHLEYFVRLEVRRGDLAALLSGVR
  QVSEDVRSPAGPKVPWFPRKVSELDKCHHLVTKFDPDLDLDHPGFSDQVYRQRRKLIAEI
  AFQYRHGDPIPRVEYTAEEIATWKEVYTTLKGLYATHACGEHLEAFALLERFSGYREDNI
  PQLEDVSRFLKERTGFQLRPVAGLLSARDFLASLAFRVFQCTQYIRHASSPMHSPEPDCC
  HELLGHVPMLADRTFAQFSQDIGLASLGASDEEIEKLSTLYWFTVEFGLCKQNGEVKAYG
  AGLLSSYGELLHCLSEEPEIRAFDPEAAAVQPYQDQTYQSVYFVSESFSDAKDKLRSYAS
  RIQRPFSVKFDPYTLAIDVLDSPQAVRRSLEGVQDELDTLAHALSAIG

• Sequence length: 528

Pathways

KEGG:

Tyrosine metabolism
Folate biosynthesis
Metabolic pathways
Dopaminergic synapse
Prolactin signaling pathway
Parkinson disease
Cocaine addiction
Amphetamine addiction
Alcoholism

Reactome:

Catecholamine biosynthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal recessive DOPA responsive dystonia	Likely pathogenic; Pathogenic	rs2133690169, rs2133691221, rs1285458218, rs2133693561, rs2133692304, rs1367289835, rs2133689319, rs2133689285, rs2133690361, rs755922032, rs2133697599, rs1264884607, rs2133696288, rs2133690407, rs200751977, rs2133686936, rs760640869, rs2133693369, rs2133690417, rs1340482195, rs2133689324, rs372409517, rs2133690469, rs2495805308, rs2495822166, rs2495806226, rs2495821664, rs200730608, rs2495804984, rs2495820282, rs2495828312, rs2495817747, rs2495815488, rs2495805014, rs2495817506, rs786204540, rs1428589694, rs775175165, rs2495805112, rs2495817866, rs2495836165, rs797045111, rs2495816041, rs2495801396, rs2495805791, rs2495805003, rs2495802432, rs1442860813, rs2495789618, rs2495842783, rs2495830511, rs2495806338, rs2495829167, rs2495805751, rs2495821318, rs121917762, rs121917763, rs80338892, rs28934580, rs587776767, rs2495829839, rs121917765, rs2495789156, rs2495782383, rs2495836407, rs2495800851, rs2495789407, rs2495807056, rs2495796661, rs1476695915, rs1337159250, rs562363231, rs2495805517, rs1169314384, rs2495789345, rs2495801552, rs2495817598, rs1846202659, rs2495806930, rs2495811622, rs2495836141, rs1846110840, rs2495801545, rs2495803371, rs2495815921, rs2495806867, rs1846146030, rs2495803181, rs2495817531, rs2495817973, rs2495803078, rs2495842209, rs367874223, rs771351747, rs2495836626, rs781411638, rs2495830952, rs2495820510, rs2495802684, rs2495815951, rs1057516819, rs1057517162, rs1057516736, rs1057516491, rs1057516712, rs1057517423, rs1057517003, rs1057516874, rs1057516716, rs1057519220, rs1057520384, rs771610752, rs1554923218, rs1372180906, rs1554922200, rs1554922593, rs1266265578, rs1260455415, rs1554924321, rs1554922441, rs1554923852, rs77140743, rs1554922725, rs1554923004, rs1554923121, rs1554923513, rs1554923810, rs1554924357, rs549435434, rs1554922434, rs1288483479, rs1554923305, rs1554923317, rs1554923802, rs753403788, rs780485650, rs1564918287, rs1590166832, rs1021029193, rs1590168368, rs1590168246, rs1590169710, rs775410637, rs1590170978, rs1590169802, rs1260079066, rs762304556, rs1846263622, rs1846095407, rs767635052	RCV001378224 RCV001379177 RCV001377711 RCV001379802 RCV001385616 RCV001582439 RCV001775267 RCV001959523 RCV001957338 RCV001904337 RCV002032110 RCV001999835 RCV001999899 RCV001999172 RCV001950773 RCV002044068 RCV001889566 RCV001878783 RCV002011534 RCV001946812 RCV002043113 RCV002026426 RCV001953643 RCV001984058 RCV002306620 RCV002306643 RCV002306717 RCV002309930 RCV002309950 RCV002308249 RCV002308261 RCV002309019 RCV002309020 RCV002309434 RCV002307050 RCV002307086 RCV000169247 RCV003058271 RCV002624255 RCV002685854 RCV002654430 RCV002796916 RCV000190632 RCV002843670 RCV002846820 RCV002881694 RCV002853217 RCV002881195 RCV002848382 RCV002885995 RCV002932749 RCV003014555 RCV003018608 RCV003032358 RCV003041879 RCV003132891 RCV003132893 RCV000013117 RCV000013118 RCV000013120 RCV000013121 RCV000013124 RCV000013125 RCV000013127 RCV003314471 RCV003340814 RCV003474109 RCV003474110 RCV003474111 RCV003474112 RCV003474113 RCV003474114 RCV003474115 RCV003474116 RCV003474117 RCV003474118 RCV003474119 RCV003474120 RCV003474121 RCV003474122 RCV003474123 RCV003474124 RCV003474125 RCV003474127 RCV003474128 RCV003512294 RCV003512413 RCV003512827 RCV003513459 RCV003511573 RCV003513603 RCV003625595 RCV003625871 RCV003626012 RCV003625962 RCV003625972 RCV003623967 RCV003624328 RCV003624339 RCV003625084 RCV000364341 RCV003864990 RCV004573736 RCV004573737 RCV004573738 RCV004573739 RCV004573740 RCV000410415 RCV000411713 RCV000410635 RCV000412367 RCV000409078 RCV000411945 RCV000409354 RCV000409032 RCV000410048 RCV000672619 RCV001782901 RCV000671827 RCV001860448 RCV001390236 RCV000667974 RCV000673660 RCV000673119 RCV000668727 RCV000671625 RCV000666718 RCV000673779 RCV000670358 RCV000668836 RCV000666731 RCV000673081 RCV000668510 RCV000667848 RCV000665867 RCV000671087 RCV000669954 RCV000674959 RCV000666054 RCV000674870 RCV000666984 RCV000669515 RCV000671082 RCV000670214 RCV000671003 RCV000721988 RCV001004555 RCV001825549 RCV001376813 RCV005606716 RCV005606715 RCV000988470 RCV000988471 RCV000995669 RCV001041901 RCV001220234 RCV001217693 RCV001245005 RCV001300835	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dystonia 5	Likely pathogenic; Pathogenic	rs762304556	RCV001353113	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dystonic disorder	Likely pathogenic; Pathogenic	rs1590168246, rs1590169710	RCV000853251 RCV000853250	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BRAIN DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATALEPSY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DELIRIUM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSKINESIA, DRUG-INDUCED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESSENTIAL HYPERTENSION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKINESIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar CTD	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LEARNING DISABILITIES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROBLASTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSONIAN DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PHEOCHROMOCYTOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RECURRENT DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TH-DEFICIENT DOPA-RESPONSIVE DYSTONIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TH-related disorder	Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 1 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYROSINE HYDROXYLASE DEFICIENCY	—	ClinGen, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
6-pyruvoyl-tetrahydropterin synthase deficiency	6-pyruvoyl-tetrahydropterin synthase deficiency	BEFREE	3297709		★☆☆☆☆ Found in Text Mining only
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	2565599		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	3928503		★☆☆☆☆ Found in Text Mining only
Adjustment Disorders	Adjustment Disorders	BEFREE	9335198		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	11344198, 12573802, 1352446, 2571679, 25946206, 26739108, 2864960, 2887169, 7908942, 8666991, 8913331, 9578504		★☆☆☆☆ Found in Text Mining only
Adult Learning Disorders	Learning Disorders	CTD_human_DG	10984662, 9822156		★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	BEFREE	29885340		★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	8651291	Associate	★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	10623641		★☆☆☆☆ Found in Text Mining only
Alopecia Areata	Alopecia Areata	BEFREE	10623641		★☆☆☆☆ Found in Text Mining only
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED	alpha-Thalassemia Mental Retardation Syndrome, X-Linked	BEFREE	29846902		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	16407544	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29680785, 30911352		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29680785, 30911352		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30566959		★☆☆☆☆ Found in Text Mining only
Asphyxia Neonatorum	Postnatal asphyxia	BEFREE	10925148		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	24059322		★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	BEFREE	28887803		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	24301786, 30575932		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	24301786, 35461705	Associate	★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	10898896		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	8098541		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21158937		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Juvenile Parkinson Disease	Parkinson Disease	CTD_human_DG	11246459, 8817341		★☆☆☆☆ Found in Text Mining only
Autosomal Dominant Parkinsonism	Parkinsonian disease	CTD_human_DG	11246459, 8817341		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Parkinsonism	Parkinsonian disease	CTD_human_DG	11246459, 8817341		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	30739428		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	10050974, 10490711, 10616951, 1355073, 1685750, 1975102, 7760324, 7903509, 7914141, 7914460, 7919920, 8103293, 8145651, 8561212, 8750358, 8984738, 9129719, 9184313, 9259367, 9440122, 9686421		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	10050974, 10490711, 10616951, 10633488, 12232779		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	2880337	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	9686421		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	20146650, 9686421		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37192740	Associate	★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	9686421		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31188160	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	15367723, 17698732, 19120120, 23537934		★☆☆☆☆ Found in Text Mining only
Catalepsy	Catalepsy	CTD_human_DG	10984662, 9822156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Catalepsy	Catalepsy	BEFREE	28782388, 29327204		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebrovascular accident	Stroke	BEFREE	24059322, 28671120		★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	17513427		★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	28560787, 31400959		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28958939, 29358197, 31475749		★☆☆☆☆ Found in Text Mining only
Delirium	Delirium	PSYGENET_DG	15656986, 9564682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delirium	Delirium	BEFREE	9564682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Delusional disorder	Delusional Disorder	BEFREE	12007750		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	BEFREE	23182718		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	11016895, 20163778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	PSYGENET_DG	11948424, 17482290, 20163778, 23305027, 24495952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deuteranomaly	Deuteranomaly	BEFREE	28194850		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	1968374, 27411382, 29104117		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	1968374, 27411382, 29104117, 31683416		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	15303408, 33753784	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	30511897, 7789624, 8739920		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	24059309, 24059322		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	31324766		★☆☆☆☆ Found in Text Mining only
Diverticulitis	Diverticulitis	BEFREE	31019703		★☆☆☆☆ Found in Text Mining only
dopamine beta hydroxylase deficiency	Dopamine Beta Hydroxylase Deficiency	BEFREE	29297566		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	8895326		★☆☆☆☆ Found in Text Mining only
Dyskinesia, Drug-Induced	Dyskinesia	CTD_human_DG	15659429		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dyskinetic syndrome	Dyskinetic Syndrome	BEFREE	20129936, 20425035, 28348207, 28631864, 29286148, 29626798		★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	15468323, 2565377	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA 18 (disorder)	Dystonia	BEFREE	20425035		★☆☆☆☆ Found in Text Mining only
Dystonia 3, Torsion, X-Linked	Dystonia	BEFREE	19578124		★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	10661862, 15468323, 15747353, 19761814, 20425035, 20809526, 23537934, 2565377, 30411798, 9182249, 9205791		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)	Dystonia, dopa-responsive, with or without hyperphenylalaninemia	UNIPROT_DG	10585338, 11196107, 11246459, 15505183, 15747353, 16049992, 17696123, 18058633, 18554280, 19491146, 20056467, 20430833, 21940685, 22264700, 22815559, 23762320, 23939262, 24753243, 7814018, 8528210, 8817341, 9613851, 9703425		★☆☆☆☆ Found in Text Mining only
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)	Dystonia, dopa-responsive, with or without hyperphenylalaninemia	GENOMICS_ENGLAND_DG	10585338, 11246459		★☆☆☆☆ Found in Text Mining only
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)	Dystonia, dopa-responsive, with or without hyperphenylalaninemia	CLINVAR_DG	11160968, 17696123, 17698383, 20056467, 20198643, 20430833, 20823027, 21937992, 22264700, 22815559, 23480488, 24753243, 25224241, 25758715, 25910213, 27934587, 28087438, 8817341, 9235905, 9703425		★☆☆☆☆ Found in Text Mining only
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)	Dystonia, dopa-responsive, with or without hyperphenylalaninemia	CLINGEN_DG	11160968, 11246459, 11281275, 12891655, 17696123, 17698383, 20198643, 21465550, 22264700, 24753243, 26276013, 28667724, 29225908, 30383639, 5836553, 7592982, 7814018, 9703425		★☆☆☆☆ Found in Text Mining only
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)	Dystonia, dopa-responsive, with or without hyperphenylalaninemia	BEFREE	15468323, 23939262		★☆☆☆☆ Found in Text Mining only
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)	Dystonia, dopa-responsive, with or without hyperphenylalaninemia	CTD_human_DG	8528210, 8817341		★☆☆☆☆ Found in Text Mining only
DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE (disorder)	Dystonia, dopa-responsive, with or without hyperphenylalaninemia	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	15468323, 2565377	Associate	★☆☆☆☆ Found in Text Mining only
Early onset torsion dystonia	Dystonia	BEFREE	12194383		★☆☆☆☆ Found in Text Mining only
Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma	BEFREE	7510263		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	12891655, 17698383, 21940685, 23939262, 30411798		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	CTD_human_DG	7842013		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	11193127, 18208403, 9774362		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Essential Hypertension	Hypertension	Pubtator	15735319	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ewings sarcoma-primitive neuroectodermal tumor (PNET)	Ewing sarcoma	BEFREE	10690538		★☆☆☆☆ Found in Text Mining only
Familial Juvenile Parkinsonism	Parkinsonian disease	CTD_human_DG	11246459, 8817341		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	11948424		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	11948424		★☆☆☆☆ Found in Text Mining only
Focal Dystonia	Focal dystonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ganglioneuroblastoma	Ganglioneuroblastoma	BEFREE	12576454, 7682155		★☆☆☆☆ Found in Text Mining only
Ganglioneuroma	Ganglioneuroma	BEFREE	28986989		★☆☆☆☆ Found in Text Mining only
Gilles de la Tourette syndrome	Tourette Syndrome	BEFREE	7619976, 8725747		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	29294337		★☆☆☆☆ Found in Text Mining only
Guillain-Barre Syndrome	Guillain-Barre Syndrome	BEFREE	20142528		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	CTD_human_DG	9822156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Heart Failure	BEFREE	28958939, 29358197		★☆☆☆☆ Found in Text Mining only
Heart valve disease	Cardiac valvular disease	BEFREE	24301786		★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	12527603, 22508396		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	BEFREE	31222759		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	14597227		★☆☆☆☆ Found in Text Mining only
Hydatidiform Mole	Hydatidiform Mole	BEFREE	30952972		★☆☆☆☆ Found in Text Mining only
HYDATIDIFORM MOLE, RECURRENT, 1	Hydatidiform Mole	BEFREE	30952972		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, BH4-Deficient, B	Hyperphenylalaninemia	BEFREE	12891655		★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninemia, Non-Phenylketonuric	Hyperphenylalaninemia	BEFREE	3297709, 9205791		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	20571875, 23489065	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	15367723, 18208403, 20571875, 20706199, 23489065, 28473232, 9774362		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	17698732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	CTD_human_DG	27659729		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Hyperthyroidism	BEFREE	27919641, 30590076		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	15735319	Associate	★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	21844155, 7760324	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28476501, 31200778		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	21937992		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	24753243, 27604308		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	21340718		★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	BEFREE	8895326		★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning Disorders	CTD_human_DG	10984662, 9822156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disorders	Learning Disorders	CTD_human_DG	10984662, 9822156		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Learning Disturbance	Learning Disorders	CTD_human_DG	10984662, 9822156		★☆☆☆☆ Found in Text Mining only
Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome	BEFREE	24891139		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27016413	Associate	★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy Body Disease	BEFREE	16407544, 28949048		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lewy Body Disease	Lewy body disease	Pubtator	16407544	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lewy Body Disease	Lewy Body Disease	LHGDN	17985144		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lewy Body Disease	Lewy body disease	Pubtator	28949048, 34983390	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lewy Body Disease	Lewy Body Disease	CTD_human_DG	30236862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Linear atrophy	Atrophy	BEFREE	30920021		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21472284		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	27585737		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	8818942	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	3928503		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 1	Major Affective Disorder	BEFREE	10050974, 10490711, 10616951, 1685750, 7760324, 7914460, 8103293, 8145651, 8561212		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 2	Major Affective Disorder	BEFREE	10050974, 10490711, 10616951, 1685750, 7760324, 7914141, 7914460, 7919920, 8103293, 8145651, 8561212, 8750358, 8984738, 9440122		★☆☆☆☆ Found in Text Mining only
Major Affective Disorder 2	Major depressive disorder	Pubtator	2898127	Associate	★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 4	Major Affective Disorder	BEFREE	10050974, 10490711, 10616951, 1685750, 7760324, 7914460, 8103293, 8145651, 8561212		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 6	Major Affective Disorder	BEFREE	10050974, 10490711, 10616951, 1685750, 7760324, 7914460, 8103293, 8145651, 8561212		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 7	Major Affective Disorder	BEFREE	10050974, 10490711, 10616951, 1685750, 7760324, 7914460, 8103293, 8145651, 8561212		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 8	Major Affective Disorder	BEFREE	10050974, 10490711, 10616951, 1685750, 7760324, 7914460, 8103293, 8145651, 8561212		★☆☆☆☆ Found in Text Mining only
MAJOR AFFECTIVE DISORDER 9	Major Affective Disorder	BEFREE	10050974, 10490711, 10616951, 1685750, 7760324, 7914460, 8103293, 8145651, 8561212		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	PSYGENET_DG	10232292, 15677400, 1671867, 23246742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	BEFREE	23246742, 30706412, 31042280		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	23182718		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	17449239		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12610512		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17972051		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12493595		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	20425035		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	11948424, 17482290, 20163778, 23305027, 24495952		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental disorders	Mental Disorders	BEFREE	7719703, 9335198, 9613850		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	27934587	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	20163778		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	BEFREE	25929431		★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	25929431	Associate	★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mitral Valve Stenosis	Mitral Valve Stenosis	BEFREE	22472872		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	10050974, 10760558, 12782971, 1975102, 24275212, 7665810, 7907843, 8561212, 8912950, 9577842, 9613850, 9754624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	PSYGENET_DG	10760558, 12782971, 18371075, 23537934, 24275212		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood Disorder	LHGDN	12782971		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mood Disorders	Mood disorder	Pubtator	2880337	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	BEFREE	11281275		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	20430833, 20823027, 24696406		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis	BEFREE	28601604		★☆☆☆☆ Found in Text Mining only
Multiple endocrine neoplasia Type 2	Multiple Endocrine Neoplasia	BEFREE	11344198		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 2a	Multiple Endocrine Neoplasia	BEFREE	11344198		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	21297130, 22472872		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	15735319, 16139102, 29860489, 31715034		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	15735319	Associate	★☆☆☆☆ Found in Text Mining only
MYOTONIC DYSTROPHY 1	Myotonic dystrophy	BEFREE	31683416		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10690538, 11018298, 11344198, 12493595, 12579272, 14500357, 14993794, 16912192, 17449239, 18057715, 18840642, 18980998, 19125082, 19671753, 20582938, 26739108, 28986989, 29846902, 30199552, 30452438, 31153914, 8674040, 8913331, 9255260, 9578504		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	14993794		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31603207		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	10393831, 11483656, 12358785, 14716776, 14993794, 18520032, 19285077, 20650311, 21951066, 27034145, 8577710, 9591338	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	BEFREE	10690538, 10811128, 11018298, 11051140, 11251011, 11431345, 11483656, 11769329, 12101048, 12208753, 12358785, 12493595, 12507966, 12576454, 12579272, 12767104, 12880971, 12880985, 14993794, 15181182, 15518890, 15585633, 15650237, 15710233, 16762325, 1676900, 16827147, 16912192, 17023822, 17449239, 18814238, 19125082, 19147568, 19285077, 19671753, 19761814, 19815691, 20231617, 20582938, 20650311, 20694854, 21083359, 21951066, 23422002, 23596146, 2571152, 29516351, 29603574, 7576966, 7576974, 7760021, 7910809, 7922554, 8093479, 8577710, 9461120, 9516847, 9578138, 9591338		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	LHGDN	12576454, 18814238		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuroblastoma	Neuroblastoma	CTD_human_DG	25174395		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	26558463, 29039448	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	12891655		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	28887803		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	24059322, 28824395, 30361782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	Pubtator	26808524	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity Abdominal	Obesity	Pubtator	26808524	Associate	★☆☆☆☆ Found in Text Mining only
Optic Nerve Glioma	Optic Nerve Glioma	BEFREE	20826448		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	14993794		★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	BEFREE	31744506		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	18840642, 25946206, 26492543, 28332883, 30199552		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	Pubtator	25946206	Associate	★☆☆☆☆ Found in Text Mining only
Paranoid Schizophrenia	Paranoid Schizophrenia	BEFREE	15363479		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	10462075, 10518586, 10616914, 10634236, 10925142, 10945765, 11128607, 12359173, 12573054, 14597011, 14622169, 14680807, 14965374, 15484694, 15717064, 16708545, 16762325, 17319280, 17471587, 17542619, 17681692, 17982884, 18085726, 18314273, 18355318, 19396395, 1979431, 20809526, 21147074, 21656370, 21951066, 22483314, 22483316, 22583428, 22583432, 22809528, 22834832, 23537934, 23573240, 23738148, 24625574, 25120226, 25172664, 25355420, 25462571, 26498265, 26732803, 27044752, 27491309, 27671228, 27842305, 27900791, 27915043, 28123558, 28151476, 28167224, 28279081, 28348207, 28357809, 28413000, 28504195, 28622392, 28637176, 28637871, 28726961, 28782388, 28798236, 28875428, 28887039, 28928221, 28937602, 28949048, 29037828, 29198609, 29201184, 29260454, 29286148, 29315562, 29331395, 29419747, 29420861, 29452071, 29626798, 29724574, 29731707, 29782882, 29849878, 29862623, 29887945, 29967574, 29995172, 30018702, 30056575, 30113007, 30120245, 30121937, 30187283, 30310174, 30319352, 30540174, 30582934, 30680924, 30834264, 30922214, 30930179, 30959125, 31048719, 31056699, 31079293, 31139074, 31198107, 31218647, 31220524, 31220543, 31229553, 31232472, 31276794, 31309116, 31336718, 31359520, 31463866, 31467572, 31478124, 31603207, 31704726, 7669103, 7842013, 7913740, 8098254, 8635567, 8941353, 9126158, 9399211, 9592104, 9613851, 9626667		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	LHGDN	15744773, 18085551		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	20809526, 21951066, 26732803, 31048719, 38245794, 39847894	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	CTD_human_DG	30236862		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	34983390	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE	Parkinson Disease	CTD_human_DG	11246459, 8817341		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	31234224		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	10661862, 11246459, 12573054, 1341965, 15747353, 20809526, 22166420, 22483316, 22583432, 24262166, 27194433, 28087438, 28249117, 28332824, 28730349, 30529726, 30690108, 8817341, 9182249, 9399211, 9613851		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	CTD_human_DG	11246459, 8817341		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonian Disorders	Parkinson Disease	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinsonism, Juvenile	Parkinsonian disease	BEFREE	10661862, 1674118, 7644124		★☆☆☆☆ Found in Text Mining only
Parkinsonism, Juvenile	Parkinsonian disease	CTD_human_DG	11246459, 8817341		★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	30361782		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	30361782		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Perry Syndrome	Perry Syndrome	BEFREE	27346608		★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	17513427, 28506393		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	11344198, 12573802, 1352446, 2571679, 25946206, 26739108, 2864960, 2887169, 7908942, 8666991, 8913331, 9578504		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma	Pheochromocytoma	CTD_human_DG	22569243		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma	Pheochromocytoma	Pubtator	25946206, 30468801, 8913331	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pheochromocytoma, Extra-Adrenal	Extra-Adrenal Pheochromocytoma	CTD_human_DG	22569243		★☆☆☆☆ Found in Text Mining only
Pituitary Diseases	Pituitary Diseases	BEFREE	11735344		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	31744506		★☆☆☆☆ Found in Text Mining only
Polyglandular Type I Autoimmune Syndrome	Polyglandular autoimmune syndrome	BEFREE	10623641, 19107747, 23182718, 30339230		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	12769189		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	29520171		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	29341892, 30759732		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	21937992		★☆☆☆☆ Found in Text Mining only
Progressive supranuclear palsy	Progressive Supranuclear Palsy	BEFREE	8666991, 9920892		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	8964885		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12610512		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25183411	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	28887803		★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ramsay Hunt Paralysis Syndrome	Ramsay Hunt Paralysis Syndrome	CTD_human_DG	11246459, 8817341		★☆☆☆☆ Found in Text Mining only
Recurrent depression	Mental Depression	BEFREE	1673974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent depression	Mental Depression	PSYGENET_DG	1673974		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Recurrent major depressive episodes	Mental Depression	BEFREE	9129719		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Restless Legs Syndrome	BEFREE	16930377, 24048084		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	18226951	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	11738858, 11738876, 17439480		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	28986989		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	30468801	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	11326301, 11475015, 12759555, 14969737, 15656986, 16459247, 16741719, 16786561, 19396395, 20067853, 23732879, 24275212, 24417771, 27550734, 28094812, 7551967, 7909222, 7991733, 8135305, 8710185, 8908411, 8984738, 9075305, 9564682, 9613851, 9684913, 9686421, 9754624		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	LHGDN	19189602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCLEROSING CHOLANGITIS, NEONATAL	Sclerosing Cholangitis	BEFREE	17156776		★☆☆☆☆ Found in Text Mining only
Segawa syndrome	Segawa Syndrome	GENOMICS_ENGLAND_DG	10585338		★☆☆☆☆ Found in Text Mining only
Segawa syndrome	Segawa Syndrome	BEFREE	10661862, 12891655, 20399390, 31419477, 7814018		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29270174		★☆☆☆☆ Found in Text Mining only
Sexual Dysfunction	Sexual Dysfunction	BEFREE	30678046		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28465478		★☆☆☆☆ Found in Text Mining only
Spastic Paraplegia	Spastic Paraplegia	BEFREE	11160968		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17972051		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	21075859	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	17972051		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	29310519		★☆☆☆☆ Found in Text Mining only
Supranuclear Palsy Progressive	Progressive supranuclear palsy	Pubtator	9920892	Associate	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	26792515		★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	30213372		★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy Syndrome	BEFREE	22120178		★☆☆☆☆ Found in Text Mining only
Timothy syndrome	Timothy syndrome	Pubtator	22120178	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	8104862		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	PSYGENET_DG	10232292, 15677400, 1671867, 23246742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	BEFREE	23246742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	29338785		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	28332006		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	31625779		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	BEFREE	21158937		★☆☆☆☆ Found in Text Mining only
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)	Vitiligo-associated SYSTEMIC LUPUS ERYTHEMATOSUS	BEFREE	21158937		★☆☆☆☆ Found in Text Mining only
Von Hippel-Lindau Syndrome	Von Hippel-Lindau Syndrome	BEFREE	11344198		★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Wolfram Syndrome	LHGDN	12782971		★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome 1	Wolfram Syndrome	BEFREE	12782971		★☆☆☆☆ Found in Text Mining only